HEPH

hephaestin
OMIM: 300167, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red HEPH in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Not set
Sources
  • Expert Review Red
  • UKGTN
Red HEPH in Iron metabolism disorders - NOT common HFE mutations


Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH